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SGCD

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene.
Protein class

Disease related genes, Human disease related genes

Predicted location

Membrane

Single cell type specificity

Group enriched (Oligodendrocyte precursor cells, Astrocytes, Oligodendrocytes, Excitatory neurons, Inhibitory neurons, Microglial cells, Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (BJ, fHDF/TERT166, LHCN-M2, RH-30, SK-MEL-30, U-138 MG)

Interaction

Interacts with FLNC and DAG1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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